Format

Send to

Choose Destination
Trends Genet. 2008 Jan;24(1):5-7. Epub 2007 Dec 3.

The haplo-spliceo-transcriptome: common variations in alternative splicing in the human population.

Author information

1
Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT 06030-3301, USA. graveley@neuron.uchc.edu

Abstract

Numerous inherited human genetic disorders are caused by defects in pre-mRNA splicing. Two recent studies have added a new twist to the link between genetic variation and pre-mRNA splicing by identifying SNPs that correlate with heritable changes in alternative splicing but do not cause disease. This suggests that allele-specific alternative splicing is a mechanism that accounts for individual variation in the human population.

PMID:
18054116
PMCID:
PMC2372159
DOI:
10.1016/j.tig.2007.10.004
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center